Canonical Allele Identifier: CA2579986090
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87933138_87933139delinsCA , CM000672.2:g.87933138_87933139delinsCA GRCh38
NC_000010.10:g.89692895_89692896delinsCA , CM000672.1:g.89692895_89692896delinsCA GRCh37
NC_000010.9:g.89682875_89682876delinsCA NCBI36
NG_007466.2:g.74700_74701delinsCA , LRG_311:g.74700_74701delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700029.2:c.379_380delinsCA ENSP00000514759.2:p.Gly127Gln
ENST00000710265.1:c.379_380delinsCA ENSP00000518161.1:p.Gly127Gln
ENST00000472832.3:c.379_380delinsCA ENSP00000483066.2:p.Gly127Gln
ENST00000688158.2:n.1114_1115delinsCA
ENST00000688922.2:c.*209_*210delinsCA ENSP00000508742.2:n.*209_*210delinsCA
ENST00000700021.1:c.334_335delinsCA ENSP00000514757.1:p.Gly112Gln
ENST00000700022.1:c.379_380delinsCA ENSP00000514758.1:p.Gly127Gln
ENST00000700029.1:c.213_214delinsCA
ENST00000706954.1:c.379_380delinsCA ENSP00000516674.1:p.Gly127Gln
ENST00000706955.1:c.*414_*415delinsCA ENSP00000516675.1:n.*414_*415delinsCA
ENST00000686459.1:c.379_380delinsCA ENSP00000508909.1:p.Gly127Gln
ENST00000688158.1:c.*490_*491delinsCA ENSP00000509254.1:n.*490_*491delinsCA
ENST00000688308.1:c.379_380delinsCA ENSP00000508752.1:p.Gly127Gln
ENST00000688922.1:c.300_301delinsCA
ENST00000693560.1:c.898_899delinsCA ENSP00000509861.1:p.Gly300Gln
ENST00000371953.8:c.379_380delinsCA MANE Select ENSP00000361021.3:p.Gly127Gln
ENST00000371953.7:c.379_380delinsCA ENSP00000361021.3:p.Gly127Gln
ENST00000498703.1:n.205_206delinsCA
ENST00000610634.1:c.277_278delinsCA ENSP00000477517.1:p.Gly93Gln
NM_000314.5:c.379_380delinsCA NP_000305.3:p.Gly127Gln
NM_000314.6:c.379_380delinsCA NP_000305.3:p.Gly127Gln
NM_001304717.2:c.898_899delinsCA NP_001291646.2:p.Gly300Gln
NM_001304718.1:c.-372_-371delinsCA NP_001291647.1:n.-372_-371delinsCA
XM_006717926.2:c.334_335delinsCA XP_006717989.1:p.Gly112Gln
XM_011539981.1:c.379_380delinsCA XP_011538283.1:p.Gly127Gln
XM_011539982.1:c.283_284delinsCA XP_011538284.1:p.Gly95Gln
XR_945789.1:n.1091_1092delinsCA
XR_945790.1:n.1091_1092delinsCA
XR_945791.1:n.1091_1092delinsCA
NM_000314.7:c.379_380delinsCA NP_000305.3:p.Gly127Gln
NM_001304717.5:c.898_899delinsCA NP_001291646.4:p.Gly300Gln
NM_001304718.2:c.-372_-371delinsCA NP_001291647.1:n.-372_-371delinsCA
NM_000314.8:c.379_380delinsCA MANE Select NP_000305.3:p.Gly127Gln